ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=)

dbSNP: rs1246120938
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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) RCV000595995 SCV000705242 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001499773 SCV001704548 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-04 criteria provided, single submitter clinical testing

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