ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=)

gnomAD frequency: 0.00001  dbSNP: rs997622169
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473399 SCV001677552 likely benign not provided 2023-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826303 SCV002086308 likely benign Autosomal recessive nonsyndromic hearing loss 77 2020-07-23 no assertion criteria provided clinical testing

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