ClinVar Miner

Submissions for variant NM_002004.4(FDPS):c.1091T>C (p.Val364Ala)

gnomAD frequency: 0.01641  dbSNP: rs41314549
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000845049 SCV000986888 not provided not provided no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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