ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.1259T>C (p.Val420Ala)

gnomAD frequency: 0.00555  dbSNP: rs191967636
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288947 SCV001476417 benign not specified 2020-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001615150 SCV001835265 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001615150 SCV002586028 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing DSPP: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001615150 SCV005303242 benign not provided criteria provided, single submitter not provided

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