ClinVar Miner

Submissions for variant NM_000860.6(HPGD):c.93+1_93+3dup

gnomAD frequency: 0.00201  dbSNP: rs70947447
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173171 SCV000224264 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
Invitae RCV000886287 SCV001029787 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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