ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)

gnomAD frequency: 0.00038  dbSNP: rs371522435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082088 SCV000114033 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764922 SCV000896085 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000082088 SCV001222432 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831884 SCV002093289 uncertain significance Usher syndrome type 1 2020-03-24 no assertion criteria provided clinical testing

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