ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)

dbSNP: rs377535432
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000911025 SCV001056078 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000911025 SCV001757094 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487984 SCV002798341 likely benign Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000911025 SCV004126752 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7, BS2
Natera, Inc. RCV001276916 SCV001463573 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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