ClinVar Miner

Submissions for variant NM_182548.4(LHFPL5):c.649+1del

dbSNP: rs1581972457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001813935 SCV001755153 likely pathogenic Ear malformation 2021-07-10 criteria provided, single submitter clinical testing
OMIM RCV000001764 SCV000021920 pathogenic Autosomal recessive nonsyndromic hearing loss 67 2006-07-01 no assertion criteria provided literature only

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