ClinVar Miner

Submissions for variant NM_005984.5(SLC25A1):c.786C>T (p.Cys262=)

gnomAD frequency: 0.00123  dbSNP: rs139016473
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000901838 SCV000527202 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000901838 SCV001046228 benign not provided 2024-10-16 criteria provided, single submitter clinical testing

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