ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.5020G>A (p.Gly1674Ser) (rs374124083)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552991 SCV000651053 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764684 SCV000895816 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26 2018-10-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709882 SCV000840223 not provided Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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