ClinVar Miner

Submissions for variant NM_001822.7(CHN1):c.915A>G (p.Val305=)

gnomAD frequency: 0.00216  dbSNP: rs13398834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902040 SCV001046441 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000902040 SCV005238463 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003950589 SCV004766388 likely benign CHN1-related disorder 2019-12-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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