ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.121-6C>T

dbSNP: rs558052679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499781 SCV001704556 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277599 SCV001464561 uncertain significance Muscle eye brain disease 2020-04-07 no assertion criteria provided clinical testing

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