ClinVar Miner

Submissions for variant NM_017662.5(TRPM6):c.2428C>T (p.Leu810=)

gnomAD frequency: 0.01104  dbSNP: rs55956641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381360 SCV000480709 likely benign Intestinal hypomagnesemia 1 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000965107 SCV001112364 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000381360 SCV002798395 likely benign Intestinal hypomagnesemia 1 2021-07-28 criteria provided, single submitter clinical testing

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