ClinVar Miner

Submissions for variant NM_024700.4(SNIP1):c.174C>A (p.Ser58Arg)

gnomAD frequency: 0.00088  dbSNP: rs200160575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950897 SCV001097239 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
New York Genome Center RCV001836920 SCV002097663 uncertain significance Psychomotor retardation, epilepsy, and craniofacial dysmorphism 2020-07-10 criteria provided, single submitter clinical testing

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