ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2958G>A (p.Met986Ile)

gnomAD frequency: 0.00001  dbSNP: rs893875655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732980 SCV000860982 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972926 SCV005571601 uncertain significance Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing The c.2904G>A (p.M968I) alteration is located in exon 27 (coding exon 27) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 2904, causing the methionine (M) at amino acid position 968 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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