ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3951C>T (p.Thr1317=) (rs144955298)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825809 SCV000967279 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Thr1317Thr in exon 29 of PCDH15: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.21% (18/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa; dbSNP rs144955298).
Invitae RCV000922871 SCV001068317 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272410 SCV001454395 likely benign Usher syndrome type 1F 2020-01-07 no assertion criteria provided clinical testing

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