ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.681C>T (p.His227=)

gnomAD frequency: 0.00073  dbSNP: rs148880349
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179913 SCV000232233 uncertain significance not provided 2015-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179913 SCV001013394 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000179913 SCV004149618 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing HDAC4: BP4, BP7

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