ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.1398A>C (p.Pro466=)

gnomAD frequency: 0.00533  dbSNP: rs138066899
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909025 SCV001053813 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000909025 SCV001820852 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818814 SCV002071608 benign not specified 2018-08-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000909025 SCV005221057 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004958261 SCV005495859 likely benign Inborn genetic diseases 2024-10-02 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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