ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg)

dbSNP: rs1658069732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332180 SCV001524416 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2019-09-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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