ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.542C>T (p.Ala181Val) (rs17232246)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000120960 SCV000302505 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094363 SCV000399884 likely benign Fanconi anemia, complementation group A 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000317320 SCV000558858 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000120960 SCV000085128 not provided not specified 2013-09-19 no assertion provided reference population

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