ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.825G>A (p.Thr275=)

gnomAD frequency: 0.00264  dbSNP: rs115076664
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000526567 SCV000528306 likely benign not provided 2021-04-25 criteria provided, single submitter clinical testing
Invitae RCV000526567 SCV000653001 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000430476 SCV001476267 benign not specified 2020-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000526567 SCV003917225 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing RXYLT1: BP4, BP7

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