ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1093+9G>A

gnomAD frequency: 0.00003  dbSNP: rs199976309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000936759 SCV001082531 likely benign not provided 2022-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502868 SCV002809508 likely benign Autosomal recessive hypophosphatemic bone disease 2022-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000936759 SCV005228775 likely benign not provided criteria provided, single submitter not provided

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