ClinVar Miner

Submissions for variant NM_178554.6(KY):c.1247T>A (p.Ile416Asn)

dbSNP: rs2107735424
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences RCV001824281 SCV002073736 likely pathogenic Myofibrillar myopathy 7 no assertion criteria provided clinical testing

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