ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)

gnomAD frequency: 0.00001  dbSNP: rs1557178278
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195903 SCV001366327 uncertain significance Cardiac valvular dysplasia, X-linked 2018-11-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770199 SCV004578955 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-29 criteria provided, single submitter clinical testing

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