ClinVar Miner

Submissions for variant NM_001134888.3(RTL1):c.3644G>A (p.Arg1215His)

gnomAD frequency: 0.00568  dbSNP: rs61993318
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000964531 SCV001111749 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964531 SCV004130420 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing RTL1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000964531 SCV005294033 benign not provided criteria provided, single submitter not provided

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