ClinVar Miner

Submissions for variant NC_000018.10:g.60033942_60033993del

dbSNP: rs2144716942
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Research Laboratory, Bethlehem University RCV001374875 SCV001571688 pathogenic Autosomal recessive osteopetrosis 7 2021-04-24 no assertion criteria provided clinical testing

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