ClinVar Miner

Submissions for variant NM_001195263.2(PDZD7):c.1934-55C>T

gnomAD frequency: 0.28374  dbSNP: rs807020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836773 SCV000978619 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001788370 SCV002029551 benign Hearing loss, autosomal recessive 57 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788369 SCV002029552 benign Usher syndrome type 2C 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836773 SCV005320078 benign not provided criteria provided, single submitter not provided

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