ClinVar Miner

Submissions for variant NR_003051.4(RMRP):n.156G>T

dbSNP: rs752709977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665758 SCV000789926 uncertain significance Metaphyseal chondrodysplasia, McKusick type 2017-10-09 criteria provided, single submitter clinical testing
OMIM RCV002285169 SCV002574781 pathogenic Metaphyseal dysplasia without hypotrichosis 2022-09-21 no assertion criteria provided literature only

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