ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.347-107A>G

gnomAD frequency: 0.35371  dbSNP: rs1012872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001537968 SCV001754915 benign ALG6-congenital disorder of glycosylation 1C 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001619949 SCV001846937 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619949 SCV005287272 benign not provided criteria provided, single submitter not provided

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