ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg)

gnomAD frequency: 0.03016  dbSNP: rs34616847
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037098 SCV000060755 benign not specified 2013-02-19 criteria provided, single submitter clinical testing His711Arg in exon 15 of PDZD7: This variant is not expected to have clinical sig nificance because it has been identified in 2.7% (59/2178) of chromosomes from a broad population from the 1000 Genomes project (http://www.ncbi.nlm.nih.gov/var iation/tools/1000genomes; rs34616847).
PreventionGenetics, part of Exact Sciences RCV000037098 SCV000306995 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712519 SCV000843024 benign not provided 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712519 SCV001728618 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000712519 SCV001866484 benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712519 SCV005320074 benign not provided criteria provided, single submitter not provided

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