ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del)

dbSNP: rs771271907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Research Laboratory, Bethlehem University RCV001375479 SCV001572332 pathogenic Autosomal recessive osteopetrosis 1 2021-04-23 no assertion criteria provided clinical testing

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