ClinVar Miner

Submissions for variant NM_001134793.2(HYLS1):c.468A>G (p.Leu156=)

gnomAD frequency: 0.00148  dbSNP: rs138284572
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885609 SCV001029070 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885609 SCV002544985 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing HYLS1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000885609 SCV005231128 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273743 SCV001457223 benign Hydrolethalus syndrome 2020-04-13 no assertion criteria provided clinical testing

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