ClinVar Miner

Submissions for variant NM_001045.6(SLC6A4):c.1273A>G (p.Ile425Val)

gnomAD frequency: 0.00073  dbSNP: rs28914832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001127236 SCV001286528 uncertain significance Behavior disorder 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000013798 SCV000034045 risk factor Obsessive-compulsive disorder, susceptibility to 2003-11-01 no assertion criteria provided literature only

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