ClinVar Miner

Submissions for variant NM_002979.5(SCP2):c.1468+17C>A

gnomAD frequency: 0.00163  dbSNP: rs79342751
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676005 SCV001791634 likely benign not provided 2019-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676005 SCV002397121 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676005 SCV000801737 benign not provided 2016-10-14 no assertion criteria provided clinical testing

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