ClinVar Miner

Submissions for variant NM_001963.6(EGF):c.3521C>A (p.Thr1174Asn)

gnomAD frequency: 0.00844  dbSNP: rs28592692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314028 SCV000446985 likely benign Renal hypomagnesemia 4 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 RCV000975048 SCV001122924 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000975048 SCV002004510 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970000 SCV004778743 benign EGF-related condition 2019-09-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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