ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1332C>A (p.Pro444=)

gnomAD frequency: 0.00003  dbSNP: rs763361384
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163928 SCV000214523 likely benign Hereditary cancer-predisposing syndrome 2014-09-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000206632 SCV000261613 likely benign Ataxia-telangiectasia syndrome 2024-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163928 SCV000681968 likely benign Hereditary cancer-predisposing syndrome 2015-07-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587079 SCV000694178 likely benign not specified 2020-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001541536 SCV001759550 benign not provided 2015-05-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001541536 SCV002050042 likely benign not provided 2021-08-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001541536 SCV004219936 likely benign not provided 2021-12-17 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589737 SCV005083552 benign Familial cancer of breast 2024-04-26 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Natera, Inc. RCV000206632 SCV002090934 likely benign Ataxia-telangiectasia syndrome 2020-03-27 no assertion criteria provided clinical testing

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