ClinVar Miner

Submissions for variant NM_152464.3(VMA12):c.156A>G (p.Gln52=)

gnomAD frequency: 0.00259  dbSNP: rs116914442
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953725 SCV001100309 benign not provided 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000953725 SCV001860364 benign not provided 2019-04-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502951 SCV002811242 likely benign TMEM199-CDG 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000953725 SCV005250925 benign not provided criteria provided, single submitter not provided

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