ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.396T>C (p.His132=)

dbSNP: rs886043409
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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) RCV000303433 SCV000339936 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434684 SCV001637495 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-09-01 criteria provided, single submitter clinical testing

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