ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.661-5C>T

gnomAD frequency: 0.00014  dbSNP: rs371972467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179891 SCV000232208 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179891 SCV001063095 benign not provided 2023-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372103 SCV002667724 likely benign Inborn genetic diseases 2020-01-29 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.

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