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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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
Genetic Services Laboratory, University of Chicago RCV000146969 SCV000194304 likely benign not specified no assertion criteria provided clinical testing

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