ClinVar Miner

Submissions for variant NM_003466.4(PAX8):c.322C>T (p.Arg108Ter)

dbSNP: rs104893655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000014793 SCV002579101 pathogenic Hypothyroidism, congenital, nongoitrous, 2 2022-04-20 criteria provided, single submitter clinical testing
OMIM RCV000014793 SCV000035048 pathogenic Hypothyroidism, congenital, nongoitrous, 2 1998-05-01 no assertion criteria provided literature only

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