ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.276G>A (p.Ala92=)

gnomAD frequency: 0.00004  dbSNP: rs200256562
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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 RCV000864448 SCV001005252 likely benign not provided 2024-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495243 SCV002799938 likely benign Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer 2021-10-07 criteria provided, single submitter clinical testing

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