ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.942C>T (p.Ile314=)

gnomAD frequency: 0.00841  dbSNP: rs35375481
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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 RCV000870993 SCV001012578 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000870993 SCV001905378 benign not provided 2019-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277291 SCV002566962 benign Connective tissue disorder 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000870993 SCV005279723 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000146969 SCV000194304 likely benign not specified no assertion criteria provided clinical testing

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