ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.303C>T (p.Ser101=)

gnomAD frequency: 0.00005  dbSNP: rs749482459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000895669 SCV001039722 likely benign Isovaleryl-CoA dehydrogenase deficiency 2023-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000895669 SCV002094391 likely benign Isovaleryl-CoA dehydrogenase deficiency 2021-04-27 no assertion criteria provided clinical testing

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