ClinVar Miner

Submissions for variant NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)

gnomAD frequency: 0.00003  dbSNP: rs121909341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008965 SCV000029177 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2007-06-01 no assertion criteria provided literature only
OMIM RCV000008966 SCV000029178 pathogenic Pendred syndrome 2007-06-01 no assertion criteria provided literature only

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