ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)

gnomAD frequency: 0.00002  dbSNP: rs771011115
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279180 SCV001466262 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-10-29 no assertion criteria provided clinical testing

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