ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1212-66T>C

gnomAD frequency: 0.34786  dbSNP: rs2292484
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830215 SCV000971950 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001533682 SCV001750445 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533737 SCV001750526 benign Retinitis pigmentosa 76 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830215 SCV005284467 benign not provided criteria provided, single submitter not provided

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