ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.135-23CTTT[2] (rs878854931)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000587450 SCV000289741 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000487231 SCV000572442 likely benign not specified 2017-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000587450 SCV000698847 likely benign not provided 2016-09-21 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.135-15_135-12delCTTT variant involves the deletion of four non-conserved nucleotides in intron 3. 5/5 splice prediction tools predict no significant impact on normal splicing. This prediction has been confirmed by a functional study (Vreeswijk_2008). This variant is absent in 102690 control chromosomes. One clinical diagnostic laboratory has classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Color RCV000776492 SCV000912074 likely benign Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing

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