ClinVar Miner

Submissions for variant NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000844990 SCV000986817 not provided PPP2R1A-related disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 05/04/2018 by GTR ID 26957. 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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