ClinVar Miner

Submissions for variant NM_001080476.3(GRXCR1):c.385-2A>G

dbSNP: rs771844359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000625566 SCV005438634 pathogenic Autosomal recessive nonsyndromic hearing loss 25 2024-12-18 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625566 SCV000746062 pathogenic Autosomal recessive nonsyndromic hearing loss 25 2017-09-18 no assertion criteria provided clinical testing

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