ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=)

gnomAD frequency: 0.00009  dbSNP: rs367881384
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Total submissions: 2
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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 RCV000151621 SCV000199833 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing p.Ser1799Ser in Exon 33 of PCDH15: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 15/212732 all chr omosomes in multiple populations by the Genome Aggregation Database (gnomAD, htt p://gnomad.broadinstitute.org; dbSNP rs367881384).
Invitae RCV000932824 SCV001078511 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing

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