ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003015439 SCV003302837 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-02-26 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003389083 SCV004101099 uncertain significance Cardiac valvular dysplasia, X-linked 2023-11-02 no assertion criteria provided clinical testing

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