ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) (rs115694169)

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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 RCV000245770 SCV000314913 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094245 SCV000396884 likely benign Fanconi anemia, complementation group P 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 RCV000326625 SCV000558652 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000245770 SCV001364669 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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