ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.762G>A (p.Pro254=)

gnomAD frequency: 0.00001  dbSNP: rs763623892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251956 SCV000316546 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001496222 SCV001700916 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-30 criteria provided, single submitter clinical testing

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