ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)

gnomAD frequency: 0.00001  dbSNP: rs878853377
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674985 SCV000800406 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-06-03 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225628 SCV000282594 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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