ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=)

gnomAD frequency: 0.00022  dbSNP: rs138137158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292497 SCV000336741 uncertain significance not provided 2015-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000292497 SCV001019591 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000292497 SCV004149600 benign not provided 2022-06-01 criteria provided, single submitter clinical testing HDAC4: BS1, BS2

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