ClinVar Miner

Submissions for variant NM_001105247.2(ARMC5):c.729C>T (p.Ala243=)

gnomAD frequency: 0.00700  dbSNP: rs114871627
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000957407 SCV001104209 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502981 SCV002805674 likely benign ACTH-independent macronodular adrenal hyperplasia 2 2021-10-25 criteria provided, single submitter clinical testing

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