ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.1002C>T (p.Ile334=)

gnomAD frequency: 0.00006  dbSNP: rs375546963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916927 SCV001062184 likely benign not provided 2023-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502777 SCV002813032 likely benign Coenzyme Q10 deficiency, primary, 3 2022-03-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000916927 SCV005225058 likely benign not provided criteria provided, single submitter not provided

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