ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) (rs1603360542)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000787478 SCV000966155 likely pathogenic Cardiac valvular dysplasia, X-linked 2018-05-16 criteria provided, single submitter clinical testing
OMIM RCV000787478 SCV000926443 pathogenic Cardiac valvular dysplasia, X-linked 2019-07-17 no assertion criteria provided literature only

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