ClinVar Miner

Submissions for variant NM_007217.4(PDCD10):c.269-1G>C

dbSNP: rs1559952467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721799 SCV000852940 likely pathogenic not provided 2016-03-21 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV003227843 SCV003925461 not provided Cerebral cavernous malformation 3 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 12-24-2018 by Lab GeneDx. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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