ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)

dbSNP: rs782633612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049509 SCV001213559 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-09-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529204 SCV001742274 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529204 SCV001807183 uncertain significance not provided no assertion criteria provided clinical testing

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