ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.648-4T>C

dbSNP: rs1829177357
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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 RCV001487507 SCV001691996 likely benign Walker-Warburg congenital muscular dystrophy 2019-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037283 SCV003566515 uncertain significance Cardiovascular phenotype 2021-09-17 criteria provided, single submitter clinical testing The c.648-4T>C intronic alteration consists of a T to C substitution 4 nucleotides before exon 7 (coding exon 5) of the FKTN gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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