ClinVar Miner

Submissions for variant NM_017662.5(TRPM6):c.4988A>G (p.Gln1663Arg)

gnomAD frequency: 0.00650  dbSNP: rs55679040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202868 SCV000258113 likely benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000949753 SCV000530589 benign not provided 2020-03-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30739590, 23942199)
Invitae RCV000949753 SCV001096019 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001169309 SCV001331996 benign Intestinal hypomagnesemia 1 2018-02-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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