ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.240C>T (p.Asn80=)

dbSNP: rs529067126
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292433 SCV000331684 benign not specified 2015-08-18 criteria provided, single submitter clinical testing
GeneDx RCV001697633 SCV000723647 benign not provided 2019-05-15 criteria provided, single submitter clinical testing
Invitae RCV000639978 SCV000761564 benign Myofibrillar myopathy 3 2023-10-13 criteria provided, single submitter clinical testing

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