ClinVar Miner

Submissions for variant NM_001127487.2(FLNC):c.6988G>A (p.Asp2330Asn) (rs1554401490)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000505431 SCV000599596 uncertain significance Cardiomyopathy, familial hypertrophic, 26 2017-09-10 no assertion criteria provided clinical testing The variant c.6988G>A(p.Gly2330Ser) has minor allele frequency of 0.08% and 0.08% in 1000 Genomes and ExAC databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 and damaging by LRT and MutationTaster2.

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