ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1413+52C>T

gnomAD frequency: 0.47939  dbSNP: rs2190453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538023 SCV001755006 benign Usher syndrome type 1C 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538024 SCV001755007 benign Autosomal recessive nonsyndromic hearing loss 18A 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655831 SCV001869267 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655831 SCV005323616 benign not provided criteria provided, single submitter not provided

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