ClinVar Miner

Submissions for variant NM_012188.5(FOXI1):c.231C>G (p.Pro77=)

gnomAD frequency: 0.00051  dbSNP: rs550209761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106071 SCV002435685 likely benign not provided 2024-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500147 SCV002809519 likely benign Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2022-02-01 criteria provided, single submitter clinical testing

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